Showing results (261-270 of 272) with videos related to
Sort By:
Pageof 28
Endocrine Journal|September 23, 2010
Clinical aspects and adrenal functions in eleven Japanese children with X-linked adrenoleukodystrophyYoko Miyoshi, Norio Sakai, Yusuke Hamada, et al.Journal of Human Genetics|August 20, 2024
Hydrops fetalis due to loss of function of hNav1.4 channel via compound heterozygous variantsTomoya Kubota, Miho Nagata, Kazuko Takagi, et al.Molecular Genetics and Metabolism Reports|August 3, 2019
Open-label clinical trial of bezafibrate treatment in patients with fatty acid oxidation disorders in Japan; 2nd report QOL surveyHideaki Shiraishi, Kenji Yamada, Eishin Oki, et al.International Journal of Neonatal Screening|July 21, 2021
Spinal Muscular Atrophy: Diagnosis, Incidence, and Newborn Screening in JapanTomokazu Kimizu, Shinobu Ida, Kentaro Okamoto, et al.Molecular Genetics and Metabolism Reports|March 20, 2018
Open-label clinical trial of bezafibrate treatment in patients with fatty acid oxidation disorders in JapanKenji Yamada, Hideaki Shiraishi, Eishin Oki, et al.Pediatric Research|August 6, 2004
Effects of citrin deficiency in the perinatal period: feasibility of newborn mass screening for citrin deficiencyAkiko Tamamori, Akie Fujimoto, Yoshiyuki Okano, et al.Annals of Clinical and Translational Neurology|October 31, 2014
Abnormal pupillary light reflex with chromatic pupillometry in Gaucher diseaseAya Narita, Kentarou Shirai, Norika Kubota, et al.Human Mutation|January 22, 2008
Novel mutations of the GLA gene in Japanese patients with Fabry disease and their functional characterization by active site specific chaperoneMasaaki Shimotori, Hiroki Maruyama, Gen Nakamura, et al.Human Molecular Genetics|April 16, 2008
The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activityMiriam Gordillo, Hugo Vega, Alison H Trainer, et al.Journal of Medical Genetics|November 12, 2016
Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT studyDerralynn A Hughes, Kathleen Nicholls, Suma P Shankar, et al.Pageof 28